ClinVar Miner

Submissions for variant NM_005157.6(ABL1):c.128G>A (p.Ser43Asn)

gnomAD frequency: 0.00183  dbSNP: rs61741003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000897146 SCV001041270 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905135 SCV004718082 benign ABL1-related condition 2020-10-06 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000119952 SCV000084082 not provided not specified 2013-09-19 no assertion provided reference population

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